"Genetic Services Laboratory, University of Chicago"[submitter] AND "M - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 43056	NM_000257.4(MYH7):c.5106G>A (p.Ala1702=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GBenign FDA Recognized database
Select item 1335943	NM_000257.4(MYH7):c.4954-15_4958del	LOC126861897, MHRT +1 more	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 211558	NM_000257.4(MYH7):c.4886T>C (p.Leu1629Pro)	LOC126861897, MHRT +1 more (L1629P)	Single nucleotide variant (non-coding transcript variant +1 more)	Myopathy	GLikely pathogenic
Select item 43032	NM_000257.4(MYH7):c.4716C>T (p.Ile1572=)	LOC126861897, MHRT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GBenign FDA Recognized database
Select item 43027	NM_000257.4(MYH7):c.4566T>C (p.Thr1522=)	MHRT, MYH7	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy	GBenign FDA Recognized database
Select item 43020	NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys)	MHRT, MYH7 (S1491C)	Single nucleotide variant (missense variant)	Cardiomyopathy	GBenign FDA Recognized database

ClinVar